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DNA Labs India

PAX6 Gene Coloboma, Ocular, Autosomal Dominant NGS Genetic Test

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PAX6 Gene Coloboma, Ocular, Autosomal Dominant NGS Genetic Test

Short Name: PAX6 Coloboma NGS Test

Also known as: PAX6 Gene Mutation Analysis, PAX6 Sequencing Test, Ocular Coloboma Genetic Test

PAX6 Gene Coloboma, Ocular, Autosomal Dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in The test report, including clinical interpretation and raw data files (FASTQ/VCF), will be delivered via email and the online patient portal within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The primary purpose of this NGS genetic test is to identify germline mutations in the PAX6 gene that cause ocular coloboma or related anterior segment developmental disorders. Achieving a molecular diagnosis helps confirm the clinical suspicion, provides accurate recurrence-risk assessment, and facilitates early intervention for at-risk family members. The test is also useful for differentiating PAX6-associated coloboma from other genetic and non-genetic causes of structural eye malformations.

Test Code
3803
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The test report, including clinical interpretation and raw data files (FASTQ/VCF), will be delivered via email and the online patient portal within 3 to 4 weeks from sample receipt.
Fasting Required
No
Method
NGS
Step 1

Sample Collection

A certified phlebotomist visits your home or you visit our nearest center. The process takes under 5 minutes.

Method: Blood draw or finger prick

Step 2

Laboratory Analysis

Your sample is analyzed using NGS in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: The test report, including clinical interpretation and raw data files (FASTQ/VCF), will be delivered via email and the online patient portal within 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:No fasting or special preparation is required. You may eat and drink normally before the test. Please inform the lab about any current medications, recent blood transfusions, or prior genetic testing.
2
During the Test:A trained phlebotomist will collect 2-3 ml of peripheral blood in an EDTA tube, or a finger-prick blood spot on an FTA card. The entire procedure takes less than 10 minutes.
3
After the Test:You can resume all normal activities immediately. The blood sample is transported to the laboratory and processed using NGS technology. Results are expected within 3-4 weeks.

About This Test

Who Should Get This Test

The primary purpose of this NGS genetic test is to identify germline mutations in the PAX6 gene that cause ocular coloboma or related anterior segment developmental disorders. Achieving a molecular diagnosis helps confirm the clinical suspicion, provides accurate recurrence-risk assessment, and facilitates early intervention for at-risk family members. The test is also useful for differentiating PAX6-associated coloboma from other genetic and non-genetic causes of structural eye malformations.

How to Prepare

  • Blood in EDTA vacutainer: gently invert the tube 8-10 times to mix anticoagulant.
  • FTA card: apply a single drop of blood and allow to air dry for at least 30 minutes at room temperature.
  • Label the sample with patient's full name, date of birth, and collection date.
  • Ship the sample to the laboratory at ambient temperature in a leak-proof bag.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic confirmation of a PAX6 mutation is essential for accurate recurrence-risk counseling and coordinated ophthalmic surveillance across generations."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood; 1 drop on FTA card; or 5-10 ug extracted DNA
ContainerEDTA vacutainer / FTA card / sterile tube
Collection MethodBlood draw or finger prick

Sample Stability

Whole blood (EDTA): stable for 48 hours at 2-8°C; do not freeze.
FTA card: stable for 6 months at room temperature.
Extracted DNA: stable for 1 year at -20°C.
Sample Rejection Criteria:
  • Clotted blood sample in EDTA tube.
  • Sample received aged more than 72 hours at ambient temperature.
  • Unlabelled or mislabelled sample.
  • FTA card contaminated with mixed blood or not dried properly.

Understanding Your Results

The genetic test report is interpreted by a clinical geneticist. A positive result confirms a germline PAX6 mutation and establishes the molecular diagnosis of PAX6-associated ocular coloboma.
📊

Pathogenic variant detected

Confirms PAX6-associated ocular coloboma. Autosomal dominant inheritance. Genetic counselling is strongly recommended for the patient and at-risk relatives.

📊

Variant of uncertain significance (VUS)

A sequence change in PAX6 not yet proven to be disease-causing. Further familial segregation analysis, in-silico predictions, and possibly functional assays may help clarify its role.

📊

No pathogenic variant detected

No pathogenic or likely pathogenic variant was found in the analyzed regions of PAX6. If clinical suspicion remains high, additional testing such as MLPA, whole exome sequencing, or chromosome microarray may be considered.

⚠️ When to Consult a Doctor:

Consult an ophthalmologist and clinical geneticist if you or your child has any structural eye abnormality, a known family history of PAX6 mutations, unexplained vision loss, or congenital cataract. Early genetic testing can guide management and reproductive decisions.

Limitations

  • ⚠This NGS test does not detect large deletions/duplications of the PAX6 gene; MLPA or array-CGH may be required.
  • ⚠Deep intronic or regulatory region variants are not reliably captured.
  • ⚠Variants of uncertain significance may require additional family studies or functional testing.
  • ⚠The test does not assess non-genetic causes of coloboma (e.g., teratogenic exposures, maternal infections).

Risks & Considerations

  • ●Minimal bruising, pain, or bleeding at the blood collection site.
  • ●Rare risk of localized infection at the venipuncture site.
  • ●Psychological/emotional impact of learning a genetic result, especially if it predicts risk for other family members.
  • ●Potential for variants of uncertain significance to cause anxiety; this will be addressed during genetic counselling.

Interfering Factors

  • ●Hemolyzed or clotted blood sample leading to DNA degradation.
  • ●Prolonged transport at high temperature causing DNA fragmentation.
  • ●Insufficient depth of coverage in certain GC-rich regions of PAX6.
  • ●Low-level mosaicism may escape detection if the variant allele fraction is below the assay sensitivity.

Compare With Similar Tests

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Frequently Asked Questions

What is PAX6 gene coloboma?
PAX6 gene coloboma is a rare genetic eye condition caused by mutations in the PAX6 gene, leading to incomplete closure of the embryonic ocular fissure. This results in a gap or missing tissue in structures such as the iris, retina, choroid, or optic nerve, which can cause vision impairment.
How is PAX6 coloboma inherited?
It is typically inherited in an autosomal dominant pattern. Each child of an affected parent has a 50% chance of inheriting the mutation. Occasionally, a new mutation can occur in a family with no prior history.
What is the approximate cost of the PAX6 NGS genetic test in India?
The cost is Rs 20,000 at DNA Labs India, which includes comprehensive NGS analysis of the PAX6 gene, clinical report, and raw data files. Additional discounts may be available for online bookings.
Why is NGS preferred over Sanger sequencing for PAX6?
NGS sequences the entire gene in a single run and can detect novel or mosaic variants with high sensitivity. Sanger is generally used to confirm known familial variants. NGS is faster and more efficient for the initial diagnosis.
What type of sample is required for the PAX6 NGS test?
The test can be performed on either 2-3 ml of peripheral blood in an EDTA tube, isolated DNA, or one drop of blood on an FTA card. Samples are easy to transport at room temperature.
How long does it take to receive the PAX6 NGS test report?
The turnaround time is 3 to 4 weeks after sample receipt. DNA Labs India provides online access to the report along with downloadable raw data files.
Does DNA Labs India share raw data files?
Yes. DNA Labs India transparently provides the FASTQ and VCF files along with the final clinical report, allowing independent re-interpretation if required.
Are there any special preparations before the test?
No fasting or special preparation is necessary. You can eat and drink normally. Just inform the lab about any blood thinners or recent blood transfusion.
Can this genetic test be performed on newborns?
Yes. The test can be done at any age, including newborn screening if coloboma or PAX6-related features are present. A pediatric sample can be collected using the FTA card method.
What does a positive PAX6 mutation result mean for family members?
A positive result confirms the genetic cause and implies a 50% risk of recurrence in offspring. At-risk relatives should be offered genetic counseling and predictive testing to clarify their own status.
Will health insurance cover the PAX6 NGS test?
Coverage varies by insurer. DNA Labs India has partnered with many insurance providers, but pre-authorization is recommended. You may also submit the invoice for reimbursement under cashless schemes if applicable.
Is genetic counseling included with this test at DNA Labs India?
Yes. A session with a genetic counselor is available to explain the results, discuss reproductive options, and create a family pedigree to assess the risk for relatives. This is included in the test price.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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